Category Archives: Human Genetics

IMAGE:Kai Zhang, Ph.D., is an assistant professor in the Department of Epidemiology, Human Genetics & Environmental Sciences at UTHealth School of Public Health. view more

Credit: UTHealth School of Public Health

HOUSTON - (Feb. 10, 2015) - Houston experienced its hottest summer on record in 2011, resulting in 278 excess emergency department visits per day during the August heat wave, according to research from The University of Texas Health Science Center at Houston (UTHealth) published recently in Environmental Health.

"The 2011 heat wave led to significantly more emergency department visits than would be typical of that period; however, mortality rates did not change much," said Kai Zhang, Ph.D., assistant professor in the Department of Epidemiology, Human Genetics & Environmental Sciences at UTHealth School of Public Health.

For 30 out of 31 days in August, temperatures exceeded 100 degrees in Houston. Emergency department admissions among those ages 65 and older rose by 8.9 percent during the heat wave. Studies have shown that the elderly are especially affected by excess heat.

Previous research has established that heat waves in California and Chicago led to high mortality rates and emergency department visits, especially in Chicago where a heat wave caused 692 fatalities.

"It could be that the mortality rate did not change much in Houston because 98 percent of residents had air conditioning and were acclimated to the hot weather. In Chicago, only 76 percent of residents had air conditioning, which may have been a factor for the number of heat wave-related deaths there," said Zhang.

A health-based heat warning system may help prevent emergency department admissions in the future in Houston, Zhang says. According to the National Weather Service Houston/Galveston office, the criteria used for heat advisories is having two consecutive days with a heat index at 108 degrees or higher, either forecast or observed. Heat index is a combination of temperature and relative humidity.

"These findings could provide insights for local government agencies and communities to design better preparation to reduce adverse health effects of future heat waves," said Charles Begley, Ph.D., co-author of the study and professor in the Department of Management, Policy & Community Health at UTHealth School of Public Health.

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2011 Houston heat wave led to significant rise in emergency department visits

Babies with two fathers or two mothers could soon become a reality Egg and sperm cells can be made using skin from two same sex adults Scientists say technique could be used to create baby two years from now Breakthrough could help infertile or gay couples to have children But concerns have been raised about prospect of 'designer babies'

By Ben Spencer for the Daily Mail

Published: 20:21 EST, 22 February 2015 | Updated: 20:22 EST, 22 February 2015

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Babies with two fathers or two mothers could become a reality after a breakthrough by researchers at Cambridge.

They have shown that it is possible to make human egg and sperm cells using skin from two adults of the same sex.

The development could help men and women who have become infertile through disease or gay couples to have children.

But critics voiced concern, arguing that the breakthrough brings closer the prospect of 'designer babies', in which the looks, character and health attributes of children would be selected by parents.

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Scientists say they can make human egg from skin of two men

Thousands of genetic dimmer switches, regions of DNA known as regulatory elements, were turned up high during human evolution in the developing cerebral cortex, according to new research from the Yale School of Medicine.

Unlike in rhesus monkeys and mice, these switches show increased activity in humans, where they may drive the expression of genes in the cerebral cortex, the region of the brain that is involved in conscious thought and language. This difference may explain why the structure and function of that part of the brain is so unique in humans compared to other mammals.

The research, led by James P. Noonan, Steven K. Reilly, and Jun Yin, is published March 6 in the journal Science.

In addition to creating a rich and detailed catalogue of human-specific changes in gene regulation, Noonan and his colleagues pinpointed several biological processes potentially guided by these regulatory elements that are crucial to human brain development.

Building a more complex cortex likely involves several things: making more cells,modifying the functions of cortical areas, and changing the connections neurons make with each other. And the regulatory changes we found in humans are associated with those processes, said Noonan, associate professor of genetics, an investigator with the Kavli Institute for Neuroscience, and senior author of the study. This likely involves evolutionary modifications to cellular proliferation, cortical patterning, and other developmental processes that are generally well conserved across many species."

Scientists have become adept at comparing the genomes of different species to identify the DNA sequence changes that underlie those differences. But many human genes are very similar to those of other primates, which suggests that changes in the way genes are regulated in addition to changes in the genes themselves is what sets human biology apart.

Up to this point, however, it has been very challenging to measure those changes and figure out their impact, especially in the developing brain. The Yale researchers took advantage of new experimental and computational tools to identify active regulatory elements those DNA sequences that switch genes on or off at specific times and in specific cell types directly in the human cortex and to study their biological effects.

First, Noonan and his colleagues mapped active regulatory elements in the human genome during the first 12 weeks of cortical development by searching for specific biochemical, or epigenetic modifications. They did the same in the developing brains of rhesus monkeys and mice, then compared the three maps to identify those elements that showed greater activity in the developing human brain. They found several thousand regulatory elements that showed increased activity in human.

Next, they wanted to know the biological impact of those regulatory changes. The team turned to BrainSpan, a freely available digital atlas of gene expression in the brain throughout the human lifespan. (BrainSpan was led by Kavli Institute member Nenad Sestan at Yale, with contributions from Noonan and Pasko Rakic, a co-author on this study.) They used those data to identify groups of genes that showed coordinated expression in the cerebral cortex. They then overlaid the regulatory changes they had found with these groups of genes and identified several biological processes associated with a surprisingly high number of regulatory changes in humans.

While we often think of the human brain as a highly innovative structure, its been surprising that so many of these regulatory elements seem to play a role in ancient processes important for building the cortex in all mammals, said first author Steven Reilly. However, this is often a hallmark of evolution, tinkering with the tools available to produce new features and functions.

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Yale researchers map switches that shaped the evolution of the human brain

Even if you look like your mother, an innovative study suggests that not only humans but, in fact, all mammals are genetically more like Dad.

We inherit equal amounts of genetic material from each parent, yet that coming from our father's side is more likely to take action, according to the study that was published in the journal Nature Genetics.

The findings have broad implications for the study of human disease, and reveal that inheriting a genetic mutation could have different consequences depending on whether it comes from Mom or Dad.

"This is an exceptional new research finding that opens the door to an entirely new area of exploration in human genetics," says Fernando Pardo-Manuel de Villena, PhD, professor of genetics and senior author of the paper.

Scientists have known for some time, that 95 genes express themselves differently depending upon which parent they come from, according to Dr. Pardo-Manuel de Villena, and now, this study has revealed that there are thousands of others.

These genetic mutations appear in complex diseases including type 2 diabetes, heart disease, schizophrenia, obesity and many cancers.

Genetically diverse mouse models that take the parent of origin into account will, from now on, provide researchers with a refined insight into what causes disease and how to treat it.

In the study, the team worked with three genetically diverse inbred strains of mice that were descended from a subspecies that had evolved in different continents.

Their progeny represented nine hybrids and each strain was used as both the mother and father.

The researchers assessed gene expression in four types of tissue in the adult mice, which included the brain -- where they observed RNA sequencing.

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You're Genetically More Like Your Father Than Your Mother: Study

Welcome and Introduction - Treating Disease with Sugars
Hudson Freeze, Ph.D. Director and Professor, Human Genetics Program Sanford-Burnham Medical Research Institute T. Denny Sanford Honorary Trustee Sanford-Burn...

By: SanfordBurnham

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Welcome and Introduction - Treating Disease with Sugars - Video

VOL. 8 | NO. 11 | Saturday, March 07, 2015

An Arizona-based real estate firm has acquired a Memphis mini-storage facility for $3.8 million.

Phoenix-based AMERCO Real Estate Co. bought the American Mini Storage facility at 7399 U.S. 64 from 7399 US Highway 64 Holdings LLC, which is affiliated with Florida-based LNR Partners Inc., for $3.8 million, according to a Feb. 24 warranty deed.

Built in 1999, the mini-storage site sits on 5.2 acres on the south side of U.S. 64 between Appling Road and Dromedary Drive. The Shelby County Assessor of Propertys 2014 appraisal is $2.7 million.

Source: The Daily News Online & Chandler Reports

Amos Maki

Louisiana Governor and possible presidential candidate Bobby Jindal will speak to Shelby County Republicans next month as part of a leadership series of events for the Tennessee Republican Party.

Jindal is the keynote speaker at the March 20 party fundraiser at the Racquet Club of Memphis.

Jindal is considering a bid for the Republican presidential nomination in 2016.

The Tennessee Republican Party is hosting former Florida Gov. Jeb Bush, another political figure weighing his chances in 2016, at the March 30 Statesmans Dinner in Nashville, the state partys largest annual event and fundraiser.

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Adams Keegan Launches New Recruiting Division

March 3, 2015

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Brett Smith for redOrbit.com @ParkstBrett

Some of us might look like mom, but we all mostly take after dad at least genetically speaking.

A new study by a large team of American researchers has found that although we inherit our genetic makeup equally from both parents we use more DNA from our father than we do from our mother.

Published in the journalNature Genetics,the study focused on genetic mutations that make us who we are and included all mammals in its scope.

[STORY: The better the warrior, the more sex he has]

This is an exceptional new research finding that opens the door to an entirely new area of exploration in human genetics, said study author Fernando Pardo-Manuel de Villena, a professor of genetics at the University of North Carolina.

Imprinted genes

The studys findings could be applied to the study of genetic factors related to disease as researchers often dont consider if certain genetic expression comes from mothers or fathers. One of the studys results showed that inheriting a mutation has different consequences, depending on which parent it came from.

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We mostly use dad's genes, study finds

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Newswise CHAPEL HILL, NC You might resemble or act more like your mother, but a novel research study from UNC School of Medicine researchers reveals that mammals are genetically more like their dads. Specifically, the research shows that although we inherit equal amounts of genetic mutations from our parents the mutations that make us who we are and not some other person we actually use more of the DNA that we inherit from our dads.

The research, published in the journal Nature Genetics, has wide implications for the study of human disease, especially when using mammalian research models. For instance, in many mouse models created for the study of gene expression related to disease, researchers typically dont take into account whether specific genetic expression originates from mothers or fathers. But the UNC research shows that inheriting a mutation has different consequences in mammals, depending on whether the genetic variant is inherited from the mother or father.

This is an exceptional new research finding that opens the door to an entirely new area of exploration in human genetics, said Fernando Pardo-Manuel de Villena, PhD, professor of genetics and senior author of the paper. Weve known that there are 95 genes that are subject to this parent-of-origin effect. Theyre called imprinted genes, and they can play roles in diseases, depending on whether the genetic mutation came from the father or the mother. Now weve found that in addition to them, there are thousands of other genes that have a novel parent-of-origin effect.

These genetic mutations that are handed down from parents show up in many common but complex diseases that involve many genes, such as type-2 diabetes, heart disease, schizophrenia, obesity, and cancers. Studying them in genetically diverse mouse models that take parent-of-origin into account will give scientists more precise insights into the underlying causes of disease and the creation of therapeutics or other interventions.

The key to this research is the Collaborative Cross the most genetically diverse mouse population in the world, which is generated, housed, and distributed from UNC. Traditional lab mice are much more limited in their genetic diversity, and so they have limited use in studies that try to home in on important aspects of diseases in humans. The Collaborative Cross bred together various wild type mice to create wide diversity in the mouse genome. Pardo-Manuel de Villena said that this diversity is comparable to the variation found in the human genome. This helps scientists study diseases that involve various levels of genetic expression across many different genes.

Gene expression connects DNA to proteins, which then carry out various functions inside cells. This process is crucial for proper human health. Mutations that alter gene expression are called regulatory mutations.

This type of genetic variation is probably the most important contributor not to simple Mendelian diseases where theres just one gene mutation [such as cystic fibrosis] but to much more common and complex diseases, such as diabetes, heart disease, neurological conditions, and a host of others, Pardo-Manuel de Villena said. These diseases are driven by gene expression, not of one gene but of hundreds or thousands of genes.

The Collaborative Cross and the expertise we have at UNC allow us to look at different gene expression for every gene in the genome of every kind of tissue, said Pardo-Manuel de Villena, who directs the Collaborative Cross.

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Genetically Speaking, Mammals Are More Like Their Fathers

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Newswise Philadelphia, March 2, 2015 Analyzing a puzzling multisystem disorder in three children, genetic experts have identified a new syndrome, shedding light on key biological processes during human development. The research also provides important information to help caregivers manage the disorder, and may offer clues to eventually treating it.

This syndrome illuminates a very important pathway in early human developmenta sort of master switch that controls many other genes, said study leader Ian D. Krantz, M.D., co-director of the Individualized Medical Genetics Center at The Childrens Hospital of Philadelphia (CHOP). Krantz, a medical geneticist, is an attending physician in CHOPs comprehensive human genetics program.

Krantz is the senior author of the study, published online today in Nature Genetics. His co-study leader is Katsuhiko Shirahige, Ph.D., of the Institute for Molecular and Cellular Biosciences, University of Tokyo, also the home institution of first author Kosuke Izumi.

The investigators named the disorder CHOPS syndrome, with the acronym representing a group of symptoms seen in the affected children: cognitive impairment and coarse facies (facial features), heart defects, obesity, pulmonary involvement, short stature and skeletal dysplasia (abnormal bone development).

The central research finding is that mutations in the gene AFF4 disrupt a crucial group of proteins called the super elongation complex (SEC). The SEC controls the transcription process by which DNA is copied into RNA, enabling genes to be expressed in a developing embryo. The timing of this biological process is tightly regulated, so anything that interferes with this timing can disturb normal development in a variety of ways.

Because the SEC involves such a crucial process in cell biology, it has long been a focus of study, particularly in cancer, said Krantz. CHOPS syndrome is the first example of a human developmental disorder caused by germline mutations in the SEC.

Originating in the embryo, germline mutations are passed along to every cell in a developing organism, with harmful effects in multiple organs and biological systems. The mutated AFF4 gene produces mutated proteins, which then accumulate and cause a cascade of abnormalities in other genes controlled by AFF4.

AFF4 has a critical role in human development, regulating so many other genes, said Krantz. When it is mutated, it can damage the heart and skeleton, and lead to intellectual disability, among other effects.

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New Genetic Syndrome Found, Arising From Errors in 'Master Switch' During Early Development

Bethesda, MD and Fort Washington, PA (PRWEB) March 02, 2015

The American Society of Human Genetics (ASHG) and ReachMD announced today the launch of Genetically Speaking, a series of audio interviews designed to educate healthcare professionals on the application of human genetics in disease prevention and management.

The series features peer-to-peer interviews conducted during the ASHG 2014 Annual Meeting and includes topics such as:

One of our primary goals at ASHG is to develop a healthcare workforce that is genetics-literate and capable of interpreting and applying information in clinical practice, said Joseph D. McInerney, MA, MS, Executive Vice President of ASHG. We are excited to team up with ReachMD to produce and deliver peer-to-peer programming to healthcare professionals nationwide.

Genetically Speaking is co-produced by ASHG and ReachMD and broadcast on ReachMDs integrated online, mobile, and on air content distribution network. Content is accessible both on demand and through 24/7 radio streaming on ReachMD, iHeartRadio, TuneIn, and iTunes digital platforms.

This series is an excellent addition to the ReachMD lineup, said Matt Birnholz, MD, Vice President and Medical Director of ReachMD. Our users love cutting-edge programming, and the scientific and medical experts on this series really showcase the latest research and the applications of genetics in disease prevention and management.

About the American Society of Human Genetics (ASHG) Founded in 1948, the American Society of Human Genetics is the primary professional membership organization for human genetics specialists worldwide. Its nearly 8,000 members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses, and others with an interest in human genetics. The Society serves scientists, health professionals, and the public by providing forums to: (1) share research results through the ASHG Annual Meeting and in The American Journal of Human Genetics; (2) advance genetic research by advocating for research support; (3) educate current and future genetics professionals, health care providers, advocates, policymakers, educators, students, and the public about all aspects of human genetics; and (4) promote genetic services and support responsible social and scientific policies. For more information, visit: http://www.ashg.org.

About ReachMD ReachMD is a multi-channel medical broadcasting company delivering education and information to healthcare professionals through an integrated online, mobile, and on air distribution network. Programming is delivered both on demand and through 24/7 streaming on ReachMD, iHeartRadio, TuneIn, and iTunes digital platforms. ReachMD has produced more than 8,000 medical broadcasts, making it the leading source of on air, online, and mobile medical education and information. More information can be found at http://www.ReachMD.com.

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American Society of Human Genetics (ASHG) and ReachMD Launch Series on Genetics and Genomics